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Contribution of High-throughput Exome Sequencing in the Diagnosis of the Cause Fetal Polymalformation Syndromes

NCT02512354 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 100

Last updated 2026-02-09

No results posted yet for this study

Summary

This research concerns the contribution of a new examination, high-throughput exome sequencing, in the diagnosis of the cause of polymalformative fetal syndromes. With currently available examinations, the causes of polyformative syndromes, which correspond to the association of several congenital malformations with varying degrees of severity in different organs, remain unknown in a large number of cases.

High-throughput exome sequencing (HTES) is a diagnostic tool that allows the simultaneous analysis of all of the coding parts of DNA. This examination has already shown its superior diagnostic capability in every post-natal diagnostic context, in particulier in infants with malformations associated or not with intellectual deficiency. Its contribution has not yet been studied in a large number of fetuses with polymalformations. To investigate the usefulness of HTES, we propose to carry out the examination in 100 fetuses with polymalformations, as well as the usual examinations including chromosomal microarray analysis and possibly the study of specific genes that may explain these malformations. A blood sample will be taken from both parents to allow interpretation of the results.

Conditions

  • Fetuses With at Least 2 Malformations, and no Diagnosis After Fetopathological and Radiological Examinations

Interventions

OTHER

Sample of a fragment of fetal tissue

OTHER

Parent's blood samples

Sponsors & Collaborators

  • Centre Hospitalier Universitaire Dijon

    lead OTHER

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2015-03-04
Primary Completion
2018-10-08
Completion
2018-10-08

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02512354 on ClinicalTrials.gov